Autoimmune Blistering Disease in a Patient with Graves Disease and Vitiligo

Soultati, Aspasia; Dourakis, Spyridon P.; Asvesti, Katerina; Nezi, Vasiliki; Alexopoulou, Alexandra; Archimandritis, Athanasios

doi:10.1097/maj.0b013e318053d7b3

Cited by 2 publications

(1 citation statement)

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“…The disease often presents in patients aged from 20-40 years old, with a male to female ratio of ~1:8 and a significant familial tendency (3). The clinical performance of GD is not limited to the thyroid, but is a multi-system syndrome, including the high metabolic syndrome group, diffuse goiter, eye symptoms, lesions and thyroid extremity diseases (4)(5)(6). Immunologically, GD is characterized by increased circulating antibodies against thyroid-stimulating hormone receptor (TSHR), thyroglobulin (TG) and thyroid peroxidase (TPO).…”

Section: Introductionmentioning

confidence: 99%

Association of the CTLA4 gene CT60/rs3087243 single-nucleotide polymorphisms with Graves' disease

Fang

Zhang

et al. 2015

Biomedical Reports

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Abstract. It has been widely reported that the CT60 single-nucleotide polymorphism (SNP), which is in the 3'-untranslated region of the cytotoxic T lymphocyte associated 4 (CTLA4) gene, is strongly correlated with certain immune-mediated diseases. The present case-control study aimed to investigate the genetic association between the CT60 SNP within the CTLA4 gene and Graves' disease (GD). A total of 288 patients with GD and 290 control subjects were recruited for the study. The CT60 SNP of the CTLA4 gene was detected by direct DNA sequencing. The results indicated that the frequencies of the GG genotype and G allele in the case group were evidently higher than that in the control group (P=4x10 , respectively). Furthermore, the G/G genotype of the CT60 SNP was associated with an increased risk for GD (odds ratio=2.223). In conclusion, these results suggested that the CT60 SNP is associated with susceptibility to GD. The frequency of the disease-susceptible G allele of CT60 was significantly associated with an increased risk of GD development. IntroductionGraves' Disease (GD), also known as toxic diffuse goiter, can increase the level of thyroid hormone, is one of the organ-specific autoimmune diseases and it accounts for 85% of all clinical hyperthyroidism (1,2). The disease often presents in patients aged from 20-40 years old, with a male to female ratio of ~1:8 and a significant familial tendency (3). The clinical performance of GD is not limited to the thyroid, but is a multi-system syndrome, including the high metabolic syndrome group, diffuse goiter, eye symptoms, lesions and thyroid extremity diseases (4-6). Immunologically, GD is characterized by increased circulating antibodies against thyroid-stimulating hormone receptor (TSHR), thyroglobulin (TG) and thyroid peroxidase (TPO). Although the precise pathogenesis involved in the process of GD is not completely understood, certain findings indicate that complex interactions between environmental, genetic, endogenous and local factors are involved in its pathogenesis (7-9). A study on the genetic susceptibility genes of GD has become of interest (10-13).Previous studies have demonstrated that a number of susceptibility genes are associated with the autoimmune thyroid diseases, including interleukin-21, TSHR, human leukocyte antigen class I and II, cluster of differentiation 40 (CD40) and cytotoxic T lymphocyte associated 4 (CTLA4) (10-15). Among them, CTLA4 as a key negative regulator of the T lymphocyte immune response has attracted an increasing focus on the susceptibility to autoimmune disease. CTLA4, which is expressed by activate T cells, is a type of transmembrane protein. The CTLA4 gene is located on human chromosome 2q33 (16). The most significant function of the CTLA4 gene is negative regulation of the human immune response. Several polymorphic sites in the CTLA4 gene are associated with thyroid diseases, such as -318C/T promoter and 49A/G exon 1, -224(AT)n dinucleotide repeat sequence single-nucleotide polymorphism (SNP), -1722C/T, -1661A/G, CT60 (...

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